ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.716T>G (p.Met239Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005234525 SCV005875784 uncertain significance not provided 2024-09-13 criteria provided, single submitter clinical testing The MEN1 c.716T>G; p.Met239Arg variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses predict that this variant is deleterious (REVEL: 0.959). However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

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